scholarly journals Molecular Characterization and Phylogeny Based Analysis of Intron I Sequence of Myostatin (MSTN) Gene in Iranian Makuei Sheep Breed

2016 ◽  
Vol 16 (4) ◽  
pp. 1007-1018
Author(s):  
Mohammad Farhadian ◽  
Ali Hashemi
Keyword(s):  
Muscle Development ◽  
Negative Regulator ◽  
Nucleotide Sequencing ◽  
Meat Production ◽  
Potential Candidate ◽  
Nucleotide Polymorphisms ◽  
Single Strand Conformational Polymorphism ◽  
Mstn Gene ◽  
Potential Candidate Gene ◽  
Intron 1

Abstract Myostatin (MSTN), a negative regulator of skeletal muscle development, acts as a potential candidate gene used to increase muscle mass. Likewise, sheep MSTN gene has an important role in meat production. MSTN is made up of 376 amino acids, and is synthesized as a precursor protein. To investigate the MSTN in Iranian native Makuei sheep, a polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) analysis was used. Genomic DNA was isolated from the blood samples. A 417-bp of MSTN intron I segment was amplified using locus-specific primers. Four SSCP patterns were identified and nucleotide sequencing of the Makuei sheep MSTN gene was done and registered in the NCBI GenBank with “KJ526625” number. Three novel single nucleotide polymorphisms (SNPs) were found in the samples. These SNPs are found in 224bp, 226bp and 242bp locations. Accordingly three substitutions (c.224C>T; c.226A>G; c.242G>T) were observed in the intron 1 region of MSTN gene. The effects of the observed SNPs on breeding values of some biometric traits were investigated and the substitution of c.226A>G was found to be associated with heart girth (HG) and leg circumference (LC). Phylogenetic analysis, based on the nucleotide sequences indicated similar evaluation with the GenBank reference sequences. It seems that the observed polymorphisms of the ovine MSTN gene are associated with HG and LC traits.

scholarly journals Effects of Intronic SNPs in the Myostatin Gene on Growth and Carcass Traits in Colored Polish Merino Sheep

Genes ◽  
2019 ◽  
Vol 11 (1) ◽  
pp. 2 ◽  
Author(s):  
Ewa Grochowska ◽  
Bronisław Borys ◽  
Sławomir Mroczkowski
Keyword(s):  
Carcass Traits ◽  
Muscle Growth ◽  
Single Strand Conformation Polymorphism ◽  
Negative Regulator ◽  
Meat Production ◽  
Nucleotide Polymorphisms ◽  
Myostatin Gene ◽  
Merino Sheep ◽  
Mstn Gene ◽  
First Intron

Myostatin acts as a negative regulator of muscle growth; therefore, its role is important with regard to animal growth and meat production. This study was undertaken with the objective to detect polymorphisms in the first intron and c.*1232 position of the MSTN gene and to analyze effects of the detected alleles/genotypes on growth and carcass traits in Colored Polish Merino sheep. In total, 23 traits were analyzed, i.e., seven describing lamb growth and 16 carcass traits. Single nucleotide polymorphisms (SNPs) in the first intron and the c.*1232 position were identified using polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) and PCR-restriction fragment length polymorphism (PCR-RFLP) methods, respectively. The MIXED procedure of the SAS software package was used to analyze allelic and genotypic effects of the MSTN gene on growth and carcass traits. Polymorphisms were only detected in the first intron of the MSTN gene. All investigated sheep were monomorphic G in the c.*1232 position. The MSTN genotype was found to have significant effect on body weight at 2nd day of life (BW2) and loin and fore shank weights. Significant allelic effects were detected with respect to BW2, scrag, leg, fore, and hind shank weights. These results suggest that polymorphisms in the first intron of the MSTN gene are relevant with respect to several carcass traits and BW2 in Colored Polish Merino sheep.

scholarly journals Genetic variation in the first intron and exon of the myostatin gene in several Indonesian cattle populations

2021 ◽  
pp. 1197-1201
Author(s):  
Peni Wahyu Prihandini ◽  
Almira Primasari ◽  
Aryogi Aryogi ◽  
Jauhari Efendy ◽  
Muchamad Luthfi ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Transforming Growth Factor ◽  
Association Studies ◽  
Negative Regulator ◽  
Reaction Products ◽  
Myostatin Gene ◽  
Mstn Gene ◽  
Synonymous Mutations ◽  
Intron 1 ◽  
Exon 1

Background and Aim: Myostatin (MSTN), a member of the transforming growth factor-β family, is a negative regulator of muscle mass. This study aimed to detect the genetic variation of the 1160 bp fragment of exon 1 and part of intron 1 of the MSTN gene in several cattle populations raised in Indonesia. Materials and Methods: Polymerase chain reaction products of the MSTN gene amplified from 92 animals representing 10 cattle populations (Peranakan Ongole [PO], Belgian Blue x PO cross, Rambon, PO x Bali cross, Jabres, Galekan, Sragen, Donggala, Madura, and Bali) were sequenced, compared, and aligned with bovine MSTN of Bos taurus (GenBank Acc. No. AF320998.1) and Bos indicus (GenBank Acc. No. AY794986.1). Results: Four nucleotide substitutions (nt 1045 and 1066 in intron 1; nt 262 and 418 in exon 1) and two indels (nt 807 and 869 in intron 1) were synonymous mutations. Among these substitutions, only the nt 262G>C and nt 418A>G loci were polymorphic in all populations, except Bali cattle. The frequencies of the nt 262C (0.82) and nt 418A (0.65) alleles were highest. For the nt 262G>C locus, the CC genotype had the highest frequency (0.66) followed by GC (0.30) and CC (0.03). For the nt 418A>G locus, the AG genotype had the highest frequency (0.52) followed by AA (0.39) and GG (0.09). Conclusion: The results, showing genetic variations in exon 1 and intron 1 of the MSTN gene, might be helpful for future association studies.

Association analyses of depression and genes in the hypothalamus–pituitary–adrenal axis

2016 ◽  
Vol 29 (1) ◽  
pp. 59-64 ◽  
Author(s):  
Henrietta Nørmølle Buttenschøn ◽  
Jesper Krogh ◽  
Marit Nyholm Nielsen ◽  
Linda Kaerlev ◽  
Merete Nordentoft ◽  
...  
Keyword(s):  
Hpa Axis ◽  
Genetic Variants ◽  
Stressful Life Events ◽  
Potential Candidate ◽  
Nucleotide Polymorphisms ◽  
Gene Encoding ◽  
Single Nucleotide ◽  
Association Analyses ◽  
Potential Candidate Gene ◽  
Potential Association

ObjectiveDysregulation of the hypothalamic–pituitary–adrenal (HPA) axis has been reported in depression. The aim was to investigate the potential association between depression and seven genes regulating or interfering with the HPA axis, including the gene encoding angiotensin converting enzyme (ACE).MethodsIn total, 78 single nucleotide polymorphisms (SNPs) and one insertion/deletion polymorphism were genotyped. The study included 408 individuals with depression and 289 controls. In a subset of cases, the interaction between genetic variants and stressful life events (SLEs) was investigated.ResultsAfter quality control, 68 genetic variants were left for analyses. Four of nine variants within ACE were nominally associated with depression and a gene-wise association was likewise observed. However, none of the SNPs located within AVP, CRH, CRHR1, CRHR2, FKBP5 or NC3C1 were associated with depression. One nominally significant interaction, most likely due to chance, was identified.ConclusionThe results indicate that ACE could be a potential candidate gene for depression.

The polymorphisms of MyoD1 gene in Manych Merino sheep and its influence on body conformation traits

2018 ◽  
Vol 68 (3) ◽  
pp. 319
Author(s):  
V TRUKHACHEV ◽  
G DZHAILIDY ◽  
V SKRIPKIN ◽  
A KULICHENKO ◽  
D KOVALEV ◽  
...  
Keyword(s):  
Muscle Development ◽  
Genetic Selection ◽  
Meat Production ◽  
Nucleotide Polymorphisms ◽  
Myogenic Regulatory Factor ◽  
Body Conformation ◽  
Meat Productivity ◽  
Body Parameters ◽  
First Time

Candidate genes associated with meat productivity often affect the performance of myostatin and muscle development in general. The MyoD1 gene is a member of the myogenic regulatory factor (MRF) family and plays a key role in the differentiation of skeletal muscle cells in vertebrates. We investigated the structure of the MyoD1 gene. The effect of polymorphisms on meat production was studied in the Russian sheep breed Manych Merino. To detect alleles, we used NimbleGen sequencing technology (Roche, USA). In the Manych Merino breed, we found 14 single nucleotide polymorphisms (SNPs) associated with substitutions, all in the second exon, namely, c.244C>T, c.246G>T, c.253G>T, c.259G>C, c.261C>T, c.269C>G, c.274C>A, c.276C>G, c.277C>A, c.279C>T, c.281C>A, c.287C>A, c.325T>C, and c.483C>T. All of these SNPs, except from c.325T>C, were detected here for the first time. The Manych Merino breed had 13 substitutions that were present as homozygous type. Only SNP c.325T>C occurred as the wild type of homozygotes and heterozygotes in the ratio 2:1. We found that SNP c.325T>C was associated with some vital body parameters, including parameters of height and croup measurement. Thus, the determination of allelic variants of the MyoD1 gene may be used in marker assisted genetic selection schemes.

scholarly journals ERAP1 and HLA-C interaction in inflammatory bowel disease in the Spanish population

2017 ◽  
Vol 23 (5) ◽  
pp. 476-481 ◽  
Author(s):  
Patricia Castro-Santos ◽  
Marco Antonio Moro-García ◽  
Raquel Marcos-Fernández ◽  
Rebeca Alonso-Arias ◽  
Roberto Díaz-Peña
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Treatment Strategies ◽  
Hla Class I ◽  
Spanish Population ◽  
Class I ◽  
Potential Candidate ◽  
Nucleotide Polymorphisms ◽  
Potential Candidate Gene ◽  
Inflammatory Bowel

Large genome-wide analysis studies (GWAS) and meta-analyses have dramatically increased our knowledge of the genetic risk factors of inflammatory bowel disease (IBD), identifying at least 163 loci. The endoplasmic reticulum aminopeptidase-2 ( ERAP2) gene has been reported as a potential candidate gene for IBD. GWAS have also shown the potential associations between ERAP single nucleotide polymorphisms (SNP) loci and susceptibility to several autoimmune diseases, and ERAP1 and ERAP2 polymorphisms are related to HLA class I-associated diseases, including ankylosing spondylitis and Behçet’s disease. Interestingly, these associations were confined to individuals carrying HLA class I-risk alleles. The aim of this study was to investigate the association of ERAP1 and ERAP2 SNPs with IBD in a Spanish population, analysing their possible interaction with specific HLA-C alleles to IBD susceptibility. A total of 367 individuals were divided into 216 IBD cases and 151 controls. SNP genotyping was performed using TaqMan® genotyping assays, whereas HLA-C typing was analysed by sequence-specific oligonucleotide probing. Herein, we report an association of the ERAP1 SNP rs30187 with the HLA-C*07 allele. The existence of shared inflammatory pathways in immunologically related diseases together with the understanding of ERAP1 function may offer clues to novel treatment strategies.

scholarly journals Association of a non-synonymous SNP of IL17RA gene with litter size traits in Large White and Landrace pigs

2021 ◽  
Vol 19 (3) ◽  
pp. 391-405
Author(s):  
Worrarak Norseeda ◽  
◽  
Guisheng Liu ◽  
Tawatchai Teltathum ◽  
Korawan Sringarm ◽  
...  
Keyword(s):  
Immune Responses ◽  
Litter Size ◽  
Interleukin 17 ◽  
Potential Candidate ◽  
Nucleotide Polymorphisms ◽  
Coding Region ◽  
Large White ◽  
Single Nucleotide ◽  
Reproductive Process ◽  
Potential Candidate Gene

Interleukin-17 receptor A (IL17RA) is one of the cytokine receptors of the pro-inflammatory interleukin-17 (IL17) cytokine family. The IL17 and IL17RA genes are involved in inflammatory and immune responses as well as reproductive process of mammals. The purposes of this study were to examine polymorphisms in the porcine IL17RA gene and to assess its effects on litter size traits in Large White and Landrace pigs. Three non-synonymous single nucleotide polymorphisms (SNPs) in the porcine IL17RA gene were verified. The porcine IL17RA c.785C>T (p.Ala262Val) was found to be segregating in the Large White and Landrace pigs. No polymorphisms in the coding region of the porcine IL17RA gene at the two non-synonymous SNPs loci of c.997G>A (p.Val333Ile) and c.1962T>G (p.Asp654Glu) were found. The porcine IL17RA c.785C>T polymorphism was significantly associated with the total number born (TNB) and the number born alive (NBA) in Large White pigs (P<0.05). Moreover, the porcine IL17RA c.785C>T was significantly associated with the TNB, NBA, total birth weight (TBW), and total weaning weight of piglets at 21 days (TWW) in Landrace pigs (P<0.05). These results supported the importance of the porcine IL17RA gene in the litter size traits of pigs. Thus, the porcine IL17RA could be used as a potential candidate gene for improving litter size traits in pig breeding.

Assessment of polymorphisms in mysostatin gene and their allele substitution effects showed weak association with growth traits in Iranian Markhoz goats

2016 ◽  
Vol 155 (3) ◽  
pp. 519-526 ◽  
Author(s):  
K. KHANI ◽  
A. ABDOLMOHAMMADI ◽  
S. FOROUTANIFAR ◽  
A. ZEBARJADI
Keyword(s):  
Growth Traits ◽  
Average Daily Gain ◽  
Substitution Effects ◽  
Potential Candidate ◽  
Nucleotide Polymorphisms ◽  
Economic Traits ◽  
Gene Effects ◽  
Mstn Gene ◽  
Goat Population ◽  
Exon 1

SUMMARYPolymorphisms in the myostatin (MSTN) gene were detected in 150 female Iranian Markhoz goats. Two 573 base pairs (bp) and 475 bp fragments of the MSTN gene, which contains a deletion 5 bp indel (206 TTTTA/), in the region of exon 1 encoding the 5′ untranslated region (UTR) of the MSTN transcript, and two single-nucleotide polymorphisms (SNPs) of substitution (339T/A, 169T/G) in exon 1 and 3 regions, respectively, were amplified. The polymerase chain reaction (PCR) products were digested separately using restriction enzyme endonuclease DraI, HinIII and HindIII. The digestion results indicated AA and AB genotypes in the region of exon 1 encoding the 5′UTR of the MSTN transcript, AA, AT and TT genotypes in exon 1 and TT, TG and GG genotypes in exon 3. The SNPs loci were in Hardy–Weinberg disequilibrium but the deletion locus showed equilibrium in the Markhoz goat population. Evaluation of associations between the polymorphisms with the studied growth traits showed that the AA and GG genotypes of exons 1 and 3 have a significant positive effect on weight at 6 months of age (W6) and average daily gain (ADG) traits, but genotypes in the region of exon 1 encoding the 5′UTR of the MSTN transcript did not have any significant effect on the studied growth traits. The statistical analyses showed a positive and significant effect of the 339A allele (exon 1) for W6 and negative and significant effect of the 169G allele (exon 3) for ADG trait. Therefore, these results suggest that the MSTN gene could be a potential candidate gene that affects ADG and W6 traits in goats. More studies are needed to simultaneously consider variants of this region in a larger population to better understand MSTN gene effects on the economic traits in goat.

scholarly journals Key Genes Regulating Skeletal Muscle Development and Growth in Farm Animals

Animals ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 835
Author(s):  
Mohammadreza Mohammadabadi ◽  
Farhad Bordbar ◽  
Just Jensen ◽  
Min Du ◽  
Wei Guo
Keyword(s):  
Skeletal Muscle ◽  
Candidate Genes ◽  
Meat Quality ◽  
Muscle Development ◽  
Muscle Growth ◽  
Farm Animals ◽  
Meat Production ◽  
Skeletal Muscle Development ◽  
Extrinsic Factors ◽  
Myogenic Regulatory Factor

Farm-animal species play crucial roles in satisfying demands for meat on a global scale, and they are genetically being developed to enhance the efficiency of meat production. In particular, one of the important breeders’ aims is to increase skeletal muscle growth in farm animals. The enhancement of muscle development and growth is crucial to meet consumers’ demands regarding meat quality. Fetal skeletal muscle development involves myogenesis (with myoblast proliferation, differentiation, and fusion), fibrogenesis, and adipogenesis. Typically, myogenesis is regulated by a convoluted network of intrinsic and extrinsic factors monitored by myogenic regulatory factor genes in two or three phases, as well as genes that code for kinases. Marker-assisted selection relies on candidate genes related positively or negatively to muscle development and can be a strong supplement to classical selection strategies in farm animals. This comprehensive review covers important (candidate) genes that regulate muscle development and growth in farm animals (cattle, sheep, chicken, and pig). The identification of these genes is an important step toward the goal of increasing meat yields and improves meat quality.

scholarly journals Relationship of the bovine IGF1, TG, DGAT1 and MYF5 genes to meat colour, tenderness and cooking loss

2018 ◽  
Vol 69 (3) ◽  
pp. 1077 ◽  
Author(s):  
S. ARDICLI ◽  
H. SAMLI ◽  
D. DINCEL ◽  
B. EKIZ ◽  
H. YALCINTAN ◽  
...  
Keyword(s):  
Muscle Metabolism ◽  
Bovine Insulin ◽  
Cooking Loss ◽  
Farm Animals ◽  
Meat Production ◽  
Nucleotide Polymorphisms ◽  
Production Traits ◽  
Colour Parameters ◽  
Meat Colour ◽  
Meat Samples

Bovine insulin-like growth factor 1 (IGF1), thyroglobulin (TG), diacylglycerol-O-acyltransferase 1 (DGAT1) and myogenic factor 5 (MYF5) genes play an important role in the physiology of lipid and muscle metabolism and are therefore considered as candidate genes for meat production traits in farm animals. The objectives of this study were to investigate single nucleotide polymorphisms (SNPs) in IGF1, TG, DGAT1 and MYF5 genes and to evaluate whether these polymorphisms affected meat colour, tenderness and cooking loss in Holstein cattle. Initially, the SNPs were detected by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) method. Meat samples (N= 50) derived from M. longissimus thoracis et lumborum (LTL) were used in the current study. Significant differences in variations of meat colour parameters were observed at 24 hours post-mortem. IGF1 was associated with colour parameters of a* and chroma values. In addition, effects of TG were statistically significant on L* and a* values, while, effects of MYF5 were significant on a* value. There was no association of the tested SNPs with meat pH, tenderness and cooking loss. The results presented here may give the valuable information for improving meat colour in cattle.

scholarly journals IL-1R2 Polymorphisms and its Interaction Associates With Osteoporosis Susceptibility in Chinese Han Population

2020 ◽  
Author(s):  
Kai Rong ◽  
Zhiquan Liang ◽  
Wenyuan Xiang ◽  
Zhan Wang ◽  
Fengli Wen ◽  
...  
Keyword(s):  
Negative Regulator ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Testing Accuracy ◽  
Relationship Of ◽  
The Relationship ◽  
Osteoporosis Risk

Abstract Background: IL-1R2, serves as a negative regulator of IL-1 signaling, is involved in the pathogenesis of osteoporosis. This study aimed to determine the correlation between IL-1R2 polymorphism and osteoporosis susceptibility among the Chinese Han population.Methods: We recruited 594 osteoporosis patients and 599 healthy controls. Six single nucleotide polymorphisms (SNPs) in IL-1R2 were selected for genotyping using Agena MassARRAY platform. Odds ratio (OR) and 95% confidence interval (CI) was calculated through logistic regression analysis with adjustment for age and sex. Linkage disequilibrium analysis was plotted by Haploview v4.2. Multifactor dimension reduction (MDR) was performed to estimate the SNP-SNP interaction of IL-1R2 variants.Results: Our result revealed that rs11674595 (OR = 1.86, p = 0.020), rs2072472 (OR = 1.26, p = 0.019) and rs4851527 (OR = 0.78, p = 0.007) were related to the risk of osteoporosis. Moreover, the contribution of IL-1R2 polymorphisms to osteoporosis risk presented age, sex and BMI difference. We found the relationship of Trs11674595Ars4851527 (OR = 0.80, p = 0.015), Crs11674595Grs4851527 (OR = 1.22, p = 0.043) and Ars3218977Grs2072472 (OR = 1.25, p = 0.022) haplotypes to osteoporosis occurrence, and a potential accumulated effect of IL-1R2 SNPs (testing accuracy = 0.5783 and CVC = 10/10) on osteoporosis susceptibility.Conclusion: IL-1R2 polymorphisms (rs11674595, rs4851527, rs2072472 and rs3218977) might contribute to osteoporosis risk among the Chinese Han population. Our finding may increase our understanding of the effects of IL-1R2 polymorphisms on the predisposition of osteoporosis.

Sign in / Sign up

Export Citation Format

Share Document